Φορτώνει......
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Case Rep Genet |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Hindawi Publishing Corporation
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4752968/ https://ncbi.nlm.nih.gov/pubmed/26942023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/2861653 |
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